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NM_153676.4(USH1C):c.1A>G (p.Met1Val) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000669702.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1A>G (p.Met1Val)]

NM_153676.4(USH1C):c.1A>G (p.Met1Val)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
HGVS:
  • NC_000011.10:g.17544307T>C
  • NG_011883.2:g.5110A>G
  • NG_033191.2:g.1935T>C
  • NM_001297764.2:c.1A>G
  • NM_005709.4:c.1A>G
  • NM_153676.4:c.1A>GMANE SELECT
  • NP_001284693.1:p.Met1Val
  • NP_005700.2:p.Met1Val
  • NP_710142.1:p.Met1Val
  • NC_000011.9:g.17565854T>C
  • NG_011883.1:g.5110A>G
  • NG_033191.1:g.1935T>C
  • NM_005709.3:c.1A>G
  • NR_123738.2:n.110A>G
Protein change:
M1V
Links:
dbSNP: rs1554965967
NCBI 1000 Genomes Browser:
rs1554965967
Molecular consequence:
  • NM_001297764.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_005709.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_153676.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001297764.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153676.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123738.2:n.110A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Usher syndrome type 1C
Synonyms:
USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:
MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904
Name:
Autosomal recessive nonsyndromic hearing loss 18A
Synonyms:
Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A
Identifiers:
MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794479Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Sep 27, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000794479.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023